Links from Gene
Items: 1 to 20 of 2742
1.
rs1491543383 has merged into rs368223947 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:127594271
(GRCh38)
7:127234325
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:127594248:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.127594249TG[11], NC_000007.14:g.127594249TG[12], NC_000007.14:g.127594249TG[13], NC_000007.14:g.127594249TG[14], NC_000007.14:g.127594249TG[15], NC_000007.14:g.127594249TG[17], NC_000007.14:g.127594249TG[18], NC_000007.14:g.127594249TG[19], NC_000007.14:g.127594249TG[20], NC_000007.14:g.127594249TG[21], NC_000007.14:g.127594249TG[22], NC_000007.14:g.127594249TG[23], NC_000007.14:g.127594249TG[24], NC_000007.13:g.127234303TG[11], NC_000007.13:g.127234303TG[12], NC_000007.13:g.127234303TG[13], NC_000007.13:g.127234303TG[14], NC_000007.13:g.127234303TG[15], NC_000007.13:g.127234303TG[17], NC_000007.13:g.127234303TG[18], NC_000007.13:g.127234303TG[19], NC_000007.13:g.127234303TG[20], NC_000007.13:g.127234303TG[21], NC_000007.13:g.127234303TG[22], NC_000007.13:g.127234303TG[23], NC_000007.13:g.127234303TG[24]
2.
rs1491372805 has merged into rs894933127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 7:127594282
(GRCh38)
7:127234336
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594279:GCGC:GC,NC_000007.14:127594279:GCGC:GCGCGC
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGC=0./0
(
ALFA)
-=0.05449/210
(ALSPAC)
-=0.06122/227
(TWINSUK)
-=0.07292/42
(NorthernSweden)
-=0.075/3
(GENOME_DK)
-=0.08242/761
(TOMMO)
-=0.10278/185
(Korea1K)
- HGVS:
3.
rs1491303737 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 7:127602196
(GRCh38)
7:127242251
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127602196:T:TGT
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491247097 has merged into rs148632991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 7:127594088
(GRCh38)
7:127234142
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594086:TAT:T,NC_000007.14:127594086:TAT:TATAT
- Gene:
- FSCN3 (Varview), LOC105375489 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TA=0.000008/2
(TOPMED)
-=0.186747/24437
(GnomAD)
-=0.272575/163
(NorthernSweden)
-=0.279752/1401
(1000Genomes)
TA=0.344334/626
(Korea1K)
- HGVS:
5.
rs1491107228 has merged into rs71522250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:127602204
(GRCh38)
7:127242258
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.275/11
(GENOME_DK)
- HGVS:
NC_000007.14:g.127602204_127602216del, NC_000007.14:g.127602207_127602216del, NC_000007.14:g.127602208_127602216del, NC_000007.14:g.127602209_127602216del, NC_000007.14:g.127602211_127602216del, NC_000007.14:g.127602212_127602216del, NC_000007.14:g.127602213_127602216del, NC_000007.14:g.127602214_127602216del, NC_000007.14:g.127602215_127602216del, NC_000007.14:g.127602216del, NC_000007.14:g.127602216dup, NC_000007.14:g.127602215_127602216dup, NC_000007.14:g.127602214_127602216dup, NC_000007.14:g.127602213_127602216dup, NC_000007.14:g.127602212_127602216dup, NC_000007.14:g.127602211_127602216dup, NC_000007.14:g.127602208_127602216dup, NC_000007.14:g.127602207_127602216dup, NC_000007.13:g.127242258_127242270del, NC_000007.13:g.127242261_127242270del, NC_000007.13:g.127242262_127242270del, NC_000007.13:g.127242263_127242270del, NC_000007.13:g.127242265_127242270del, NC_000007.13:g.127242266_127242270del, NC_000007.13:g.127242267_127242270del, NC_000007.13:g.127242268_127242270del, NC_000007.13:g.127242269_127242270del, NC_000007.13:g.127242270del, NC_000007.13:g.127242270dup, NC_000007.13:g.127242269_127242270dup, NC_000007.13:g.127242268_127242270dup, NC_000007.13:g.127242267_127242270dup, NC_000007.13:g.127242266_127242270dup, NC_000007.13:g.127242265_127242270dup, NC_000007.13:g.127242262_127242270dup, NC_000007.13:g.127242261_127242270dup
6.
rs1491016521 has merged into rs148632991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 7:127594088
(GRCh38)
7:127234142
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594086:TAT:T,NC_000007.14:127594086:TAT:TATAT
- Gene:
- FSCN3 (Varview), LOC105375489 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TA=0.000008/2
(TOPMED)
-=0.186747/24437
(GnomAD)
-=0.272575/163
(NorthernSweden)
-=0.279752/1401
(1000Genomes)
TA=0.344334/626
(Korea1K)
- HGVS:
7.
rs1490394982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127599840
(GRCh38)
7:127239894
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127599839:G:A
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
8.
rs1490230225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:127599439
(GRCh38)
7:127239493
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127599438:T:A
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490208579 has merged into rs71522250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:127602204
(GRCh38)
7:127242258
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:127602195:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.275/11
(GENOME_DK)
- HGVS:
NC_000007.14:g.127602204_127602216del, NC_000007.14:g.127602207_127602216del, NC_000007.14:g.127602208_127602216del, NC_000007.14:g.127602209_127602216del, NC_000007.14:g.127602211_127602216del, NC_000007.14:g.127602212_127602216del, NC_000007.14:g.127602213_127602216del, NC_000007.14:g.127602214_127602216del, NC_000007.14:g.127602215_127602216del, NC_000007.14:g.127602216del, NC_000007.14:g.127602216dup, NC_000007.14:g.127602215_127602216dup, NC_000007.14:g.127602214_127602216dup, NC_000007.14:g.127602213_127602216dup, NC_000007.14:g.127602212_127602216dup, NC_000007.14:g.127602211_127602216dup, NC_000007.14:g.127602208_127602216dup, NC_000007.14:g.127602207_127602216dup, NC_000007.13:g.127242258_127242270del, NC_000007.13:g.127242261_127242270del, NC_000007.13:g.127242262_127242270del, NC_000007.13:g.127242263_127242270del, NC_000007.13:g.127242265_127242270del, NC_000007.13:g.127242266_127242270del, NC_000007.13:g.127242267_127242270del, NC_000007.13:g.127242268_127242270del, NC_000007.13:g.127242269_127242270del, NC_000007.13:g.127242270del, NC_000007.13:g.127242270dup, NC_000007.13:g.127242269_127242270dup, NC_000007.13:g.127242268_127242270dup, NC_000007.13:g.127242267_127242270dup, NC_000007.13:g.127242266_127242270dup, NC_000007.13:g.127242265_127242270dup, NC_000007.13:g.127242262_127242270dup, NC_000007.13:g.127242261_127242270dup
10.
rs1489837436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:127597456
(GRCh38)
7:127237510
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127597455:A:G
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
11.
rs1489770620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127599822
(GRCh38)
7:127239876
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127599821:G:A
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
12.
rs1489367355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127601337
(GRCh38)
7:127241391
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127601336:G:A
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489212802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 7:127594414
(GRCh38)
7:127234469
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594414:AA:AAAA
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488884073 has merged into rs749215425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:127594174
(GRCh38)
7:127234228
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:127594160:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- FSCN3 (Varview), LOC105375489 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.127594162GT[6], NC_000007.14:g.127594162GT[7], NC_000007.14:g.127594162GT[8], NC_000007.14:g.127594162GT[10], NC_000007.14:g.127594162GT[11], NC_000007.14:g.127594162GT[12], NC_000007.14:g.127594162GT[13], NC_000007.14:g.127594162GT[14], NC_000007.14:g.127594162GT[15], NC_000007.14:g.127594162GT[16], NC_000007.14:g.127594162GT[17], NC_000007.14:g.127594162GT[19], NC_000007.14:g.127594162GT[20], NC_000007.14:g.127594162GT[21], NC_000007.14:g.127594162GT[22], NC_000007.14:g.127594162GT[23], NC_000007.14:g.127594162GT[24], NC_000007.14:g.127594162GT[25], NC_000007.14:g.127594162GT[26], NC_000007.13:g.127234216GT[6], NC_000007.13:g.127234216GT[7], NC_000007.13:g.127234216GT[8], NC_000007.13:g.127234216GT[10], NC_000007.13:g.127234216GT[11], NC_000007.13:g.127234216GT[12], NC_000007.13:g.127234216GT[13], NC_000007.13:g.127234216GT[14], NC_000007.13:g.127234216GT[15], NC_000007.13:g.127234216GT[16], NC_000007.13:g.127234216GT[17], NC_000007.13:g.127234216GT[19], NC_000007.13:g.127234216GT[20], NC_000007.13:g.127234216GT[21], NC_000007.13:g.127234216GT[22], NC_000007.13:g.127234216GT[23], NC_000007.13:g.127234216GT[24], NC_000007.13:g.127234216GT[25], NC_000007.13:g.127234216GT[26]
15.
rs1488434402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:127596709
(GRCh38)
7:127236763
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127596708:A:G
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
16.
rs1488417133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:127601445
(GRCh38)
7:127241499
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127601444:T:C
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1487977337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127595930
(GRCh38)
7:127235984
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127595929:G:A
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1487876381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGCG>-
[Show Flanks]
- Chromosome:
- 7:127594269
(GRCh38)
7:127234323
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127594267:GTGTGTGTGTGTGCG:G
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.000049/5
(GnomAD)
- HGVS:
19.
rs1487731196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:127600781
(GRCh38)
7:127240835
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127600780:T:C
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
20.
rs1487660523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:127599760
(GRCh38)
7:127239814
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127599759:A:G
- Gene:
- FSCN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS: